ABCB7

ABCB7

A gene on chromosome Xq13.3 that encodes an ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins, MDR/TAP subfamily, which is involved in multi-drug resistance as well as antigen presentation, and thought to play a role in metal homeostasis.

Molecular pathologyABCB7 mutations have been linked to X-linked sideroblastic anaemia with ataxia.

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